PMID 27657687 2017 Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
rs672601368 in
KIF1A gene and
Cerebellar atrophy
PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
rs1555789140 in
OVOL2;MGME1;SNX5 gene and
Cerebellar atrophy
PMID 28711739 2017 Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.
rs63750687 in
PSEN1 gene and
Cerebellar atrophy
PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.
rs752298579 in
TANGO2 gene and
Cerebellar atrophy
PMID 26805781 2016 Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
rs863223953 in
YARS2;DNM1L gene and
Cerebellar atrophy
PMID 26604000 2016 DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.
PMID 27145208 2016 A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.